Mutagenetix > Incidental Mutation

Incidental Mutation 'R2874:Frmpd4'

260492

Institutional Source

Beutler Lab

Gene Symbol

Frmpd4

Ensembl Gene

ENSMUSG00000049176

Gene Name

FERM and PDZ domain containing 4

Synonyms

LOC237234, PKAP1, Preso1, Pdzd10, Pdzk10, Preso

MMRRC Submission

040462-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2874 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

166254305-167360227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 166260243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1166 (D1166E)

Ref Sequence

ENSEMBL: ENSMUSP00000107777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112145] [ENSMUST00000112146] [ENSMUST00000112147] [ENSMUST00000112149]

AlphaFold

A2AFR3

Predicted Effect

probably benign
Transcript: ENSMUST00000112145
AA Change: D1158E

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107773
Gene: ENSMUSG00000049176
AA Change: D1158E

Domain	Start	End	E-Value	Type
PDZ	77	147	1.38e-12	SMART
B41	194	416	1.86e-49	SMART
low complexity region	734	745	N/A	INTRINSIC
low complexity region	762	775	N/A	INTRINSIC
Blast:B41	794	864	9e-6	BLAST
low complexity region	865	874	N/A	INTRINSIC
low complexity region	892	905	N/A	INTRINSIC
low complexity region	1210	1224	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112146
AA Change: D1126E

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107774
Gene: ENSMUSG00000049176
AA Change: D1126E

Domain	Start	End	E-Value	Type
PDZ	45	115	1.38e-12	SMART
B41	162	384	1.86e-49	SMART
low complexity region	702	713	N/A	INTRINSIC
low complexity region	730	743	N/A	INTRINSIC
Blast:B41	762	832	1e-5	BLAST
low complexity region	833	842	N/A	INTRINSIC
low complexity region	860	873	N/A	INTRINSIC
low complexity region	1178	1192	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112147
AA Change: D1158E

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107775
Gene: ENSMUSG00000049176
AA Change: D1158E

Domain	Start	End	E-Value	Type
PDZ	77	147	1.38e-12	SMART
B41	194	416	1.86e-49	SMART
low complexity region	734	745	N/A	INTRINSIC
low complexity region	762	775	N/A	INTRINSIC
Blast:B41	794	864	9e-6	BLAST
low complexity region	865	874	N/A	INTRINSIC
low complexity region	892	905	N/A	INTRINSIC
low complexity region	1210	1224	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112149
AA Change: D1166E

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107777
Gene: ENSMUSG00000049176
AA Change: D1166E

Domain	Start	End	E-Value	Type
PDZ	85	155	1.38e-12	SMART
B41	202	424	1.86e-49	SMART
low complexity region	742	753	N/A	INTRINSIC
low complexity region	770	783	N/A	INTRINSIC
Blast:B41	802	872	1e-5	BLAST
low complexity region	873	882	N/A	INTRINSIC
low complexity region	900	913	N/A	INTRINSIC
low complexity region	1218	1232	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased inflammation-induced pain and thermal pain in a chronic pain model. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930029G22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Ankrd42	T	C	7: 92,254,566 (GRCm39)	K348E	possibly damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Cebpz	A	T	17: 79,239,532 (GRCm39)		probably benign	Het
Clcn4	A	G	7: 7,293,520 (GRCm39)	I412T	probably benign	Het
Clstn3	T	A	6: 124,415,294 (GRCm39)	D690V	probably damaging	Het
Col12a1	A	T	9: 79,606,831 (GRCm39)	F531I	probably damaging	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Ext2	A	G	2: 93,570,031 (GRCm39)	V460A	possibly damaging	Het
Fscb	T	C	12: 64,520,210 (GRCm39)	K419E	probably benign	Het
Ftdc1	A	T	16: 58,434,342 (GRCm39)	I125K	probably benign	Het
Ggct	G	T	6: 54,969,759 (GRCm39)	A21D	probably damaging	Het
Gm10717	A	G	9: 3,025,532 (GRCm39)	Y39C	probably benign	Het
Grid2ip	C	A	5: 143,343,684 (GRCm39)	Q127K	probably benign	Het
Ighv2-2	G	A	12: 113,552,118 (GRCm39)	T40I	possibly damaging	Het
Itpr2	T	C	6: 146,327,996 (GRCm39)	K79R	possibly damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Het
Kpna7	T	C	5: 144,930,745 (GRCm39)	T367A	probably benign	Het
Lactbl1	G	A	4: 136,354,097 (GRCm39)	C37Y	probably damaging	Het
Lrp1b	A	G	2: 40,741,705 (GRCm39)	L3188P	probably damaging	Het
Matcap1	A	G	8: 106,008,664 (GRCm39)	M451T	possibly damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Noc4l	A	G	5: 110,796,969 (GRCm39)	V465A	probably benign	Het
Notch1	A	G	2: 26,350,247 (GRCm39)	C2298R	possibly damaging	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Plxna3	T	A	X: 73,383,002 (GRCm39)		probably benign	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Het
Prps1	C	T	X: 139,372,743 (GRCm39)		probably benign	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Qng1	T	A	13: 58,530,384 (GRCm39)	I209F	probably damaging	Het
Ralgds	A	G	2: 28,438,781 (GRCm39)		probably null	Het
Rasl12	A	G	9: 65,315,605 (GRCm39)	N83S	probably benign	Het
Rnf6	T	C	5: 146,147,215 (GRCm39)	Y601C	probably benign	Het
Rreb1	T	C	13: 38,100,484 (GRCm39)	I205T	probably benign	Het
Sgk2	A	G	2: 162,836,449 (GRCm39)		probably benign	Het
Spsb4	G	T	9: 96,878,071 (GRCm39)	T84K	probably damaging	Het
St7	C	T	6: 17,819,276 (GRCm39)	P60L	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tep1	A	G	14: 51,088,107 (GRCm39)	I85T	possibly damaging	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het

Other mutations in Frmpd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Frmpd4	APN	X	166,275,931 (GRCm39)	missense	probably damaging	1.00
IGL02476:Frmpd4	APN	X	166,280,851 (GRCm39)	missense	probably damaging	1.00
IGL03142:Frmpd4	APN	X	166,262,479 (GRCm39)	missense	possibly damaging	0.86
IGL03292:Frmpd4	APN	X	166,260,586 (GRCm39)	missense	probably benign
PIT4283001:Frmpd4	UTSW	X	166,512,030 (GRCm39)	missense	possibly damaging	0.95
R0647:Frmpd4	UTSW	X	166,272,006 (GRCm39)	missense	probably damaging	1.00
R1520:Frmpd4	UTSW	X	166,275,949 (GRCm39)	missense	probably damaging	1.00
R2869:Frmpd4	UTSW	X	166,260,243 (GRCm39)	missense	probably benign	0.24
R2869:Frmpd4	UTSW	X	166,260,243 (GRCm39)	missense	probably benign	0.24
R2871:Frmpd4	UTSW	X	166,260,243 (GRCm39)	missense	probably benign	0.24
R2871:Frmpd4	UTSW	X	166,260,243 (GRCm39)	missense	probably benign	0.24
R2872:Frmpd4	UTSW	X	166,260,243 (GRCm39)	missense	probably benign	0.24
R2872:Frmpd4	UTSW	X	166,260,243 (GRCm39)	missense	probably benign	0.24
R3729:Frmpd4	UTSW	X	166,269,803 (GRCm39)	missense	probably damaging	0.96
R3731:Frmpd4	UTSW	X	166,269,803 (GRCm39)	missense	probably damaging	0.96
R6943:Frmpd4	UTSW	X	166,387,579 (GRCm39)	missense	probably damaging	1.00
Z1088:Frmpd4	UTSW	X	166,280,836 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATGTGCTTCCCCATGGAC -3'
(R):5'- CATGAAAGTCTTTCCCAGAGGTC -3'

Sequencing Primer
(F):5'- AGGCACTGCTACTGCTGC -3'
(R):5'- TTTCCCAGAGGTCCAGGCTTG -3'

Posted On

2015-01-23